Canonical Allele Identifier: PA2827016933
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468024
ClinVar RCV Id: RCV000528192 RCV004024050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Leu130Arg
CA394306574
NM_001318832.2:c.389T>G